Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

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• 作者：Belé ; n Bornstein ; Estela Area ; Kevin M. Flanigan ; Jaya Ganesh ; Parul Jayakar ; Kathryn J. Swoboda ; Jorida Coku ; Ali Naini ; Sara Shanske ; Kurenai Tanji ; Michio Hirano ; Salvatore DiMauro
• 关键词：mtDNA depletion ; Mitochondrial myopathy ; RRM2B
• 刊名：Neuromuscular Disorders
• 出版年：2008
• 出版时间：June 2008
• 年：2008
• 卷：18
• 期：6
• 页码：453-459
• 全文大小：1267 K

文摘

Mitochondrial DNA depletion syndrome (MDS) is characterized by a reduction in mtDNA copy number and has been associated with mutations in eight nuclear genes, including enzymes involved in mitochondrial nucleotide metabolism (POLG, TK2, DGUOK, SUCLA2, SUCLG1, PEO1) and MPV17. Recently, mutations in the RRM2B gene, encoding the p53-controlled ribonucleotide reductase subunit, have been described in seven infants from four families, who presented with various combinations of hypotonia, tubulopathy, seizures, respiratory distress, diarrhea, and lactic acidosis. All children died before 4 months of age.